Síndrome de genes contiguos TSC2 / PKD1
Author:
Publisher
Elsevier BV
Subject
Nephrology
Reference6 articles.
1. TSC2/PKD1 contiguous gene deletion syndrome;Llamas Velasco;An Pediatr (Barc),2013
2. Two novel gross deletions of TSC2 in Malaysian patients with tuberous sclerosis complex and TSC2/PKD1 contiguous deletion syndrome;Ismail;Jpn J Clin Oncol,2014
3. Alp A, Esener S, Gürsoy D. Segmental tuberous sclerosis in a patient with chronic kidney disease [Article in English, Spanish]. Nefrologia. 2016. pii: S0211-6995(16)30147-3. doi: 10.1016/j.nefro.2016.09.012.
4. Tuberous sclerosis: Clinical characteristics and their relationship to genotype/phenotype;Monteiro;An Pediatr (Barc),2014
5. Renal angiomyolipoma bleeding in a patient with TSC2/PKD1 contiguous gene syndrome after 17 years of renal replacement therapy;Furlano;Nefrologia.,2016
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1. Two novel mutations in the TSC2 gene causing severe phenotype in nervous system and skin in a patient with tuberous sclerosis complex;Journal of the European Academy of Dermatology and Venereology;2018-02-12
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